Linked Data
ClinVar Variation Id:
132635
dbSNP Id:
rs515726212
ExAC:
15:43500947 G / A
gnomAD v2:
15-43500947-G-A
gnomAD v3:
15-43208749-G-A
gnomAD v4:
15-43208749-G-A
PubMed:
PMID:24624460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43208749G>A , CM000677.2:g.43208749G>A | GRCh38 |
| NC_000015.9:g.43500947G>A , CM000677.1:g.43500947G>A | GRCh37 |
| NC_000015.8:g.41288239G>A | NCBI36 |
| NG_011505.1:g.17377C>T | |
| NG_011505.2:g.22108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441366.7:c.859C>T MANE Select | ENSP00000396616.2:p.Arg287Cys | |
| ENST00000567019.2:n.365C>T | ||
| ENST00000648595.1:c.949C>T | ENSP00000497777.1:p.Arg317Cys | |
| ENST00000300215.7:c.949C>T | ENSP00000300215.3:p.Arg317Cys | |
| ENST00000441366.6:c.859C>T | ENSP00000396616.2:p.Arg287Cys | |
| ENST00000540029.5:c.625C>T | ENSP00000444699.1:p.Arg209Cys | |
| ENST00000567019.1:n.374C>T | ||
| ENST00000568508.5:c.718C>T | ENSP00000457140.1:p.Arg240Cys | |
| ENST00000569204.1:c.418C>T | ENSP00000455489.1:p.Arg140Cys | |
| ENST00000622454.4:c.859C>T | ENSP00000481226.1:p.Arg287Cys | |
| NM_000119.2:c.949C>T | NP_000110.2:p.Arg317Cys | |
| NM_001114134.1:c.859C>T | NP_001107606.1:p.Arg287Cys | |
| XM_005254225.1:c.754C>T | XP_005254282.1:p.Arg252Cys | |
| XM_011521349.1:c.949C>T | XP_011519651.1:p.Arg317Cys | |
| XM_011521350.1:c.949C>T | XP_011519652.1:p.Arg317Cys | |
| XM_011521351.1:c.949C>T | XP_011519653.1:p.Arg317Cys | |
| XM_011521352.1:c.913C>T | XP_011519654.1:p.Arg305Cys | |
| XM_011521353.1:c.844C>T | XP_011519655.1:p.Arg282Cys | |
| XM_011521354.1:c.394C>T | XP_011519656.1:p.Arg132Cys | |
| NM_000119.3:c.949C>T | NP_000110.2:p.Arg317Cys | |
| XM_011521349.2:c.949C>T | XP_011519651.1:p.Arg317Cys | |
| XM_011521350.2:c.949C>T | XP_011519652.1:p.Arg317Cys | |
| XM_011521351.2:c.949C>T | XP_011519653.1:p.Arg317Cys | |
| XM_011521352.2:c.913C>T | XP_011519654.1:p.Arg305Cys | |
| XM_011521353.2:c.844C>T | XP_011519655.1:p.Arg282Cys | |
| XM_011521354.2:c.394C>T | XP_011519656.1:p.Arg132Cys | |
| NM_001114134.2:c.859C>T MANE Select | NP_001107606.1:p.Arg287Cys |